Canonical Allele Identifier: CA460021518

Gene: NEFL

Linked Data

• gnomAD v4: 8-24956718-C-A
• MyVariant Identifiers: chr8:g.24814232C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956718C>A , CM000670.2:g.24956718C>A	GRCh38
NC_000008.10:g.24814232C>A , CM000670.1:g.24814232C>A	GRCh37
NC_000008.9:g.24870149C>A	NCBI36
NG_008492.1:g.4900G>T , LRG_259:g.4900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.1:c.-203G>T	ENSP00000482169.1:n.-203G>T
ENST00000615973.1:n.4G>T
NM_006158.4:c.-203G>T , LRG_259t1:c.-203G>T	NP_006149.2:n.-203G>T